Canonical Allele Identifier: CA415834158
Gene: PLEKHG5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.6534608C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.6474548C>G , CM000663.2:g.6474548C>G GRCh38
NC_000001.10:g.6534608C>G , CM000663.1:g.6534608C>G GRCh37
NC_000001.9:g.6457195C>G NCBI36
NG_007978.1:g.50462G>C , LRG_262:g.50462G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000340850.10:c.342G>C ENSP00000344570.5:p.Ala114=
ENST00000377728.8:c.342G>C MANE Select ENSP00000366957.3:p.Ala114=
ENST00000377740.5:c.342G>C ENSP00000366969.4:p.Ala114=
ENST00000377748.6:c.516G>C ENSP00000366977.2:p.Ala172=
ENST00000400913.6:c.342G>C ENSP00000383704.1:p.Ala114=
ENST00000400915.8:c.453G>C ENSP00000383706.4:p.Ala151=
ENST00000489097.6:n.818G>C
ENST00000535355.6:c.549G>C ENSP00000441445.1:p.Ala183=
ENST00000537245.6:c.453G>C ENSP00000439625.2:p.Ala151=
ENST00000673471.2:c.639G>C ENSP00000500749.1:p.Ala213=
ENST00000674790.1:c.*554G>C ENSP00000502815.1:n.*554G>C
ENST00000675123.1:c.342G>C ENSP00000502132.1:p.Ala114=
ENST00000675548.1:c.*170G>C ENSP00000502684.1:n.*170G>C
ENST00000675694.1:c.342G>C ENSP00000501925.1:p.Ala114=
ENST00000676255.1:c.304G>C ENSP00000502459.1:n.304G>C
ENST00000340850.9:c.342G>C ENSP00000344570.5:p.Ala114=
ENST00000377725.5:c.342G>C ENSP00000366954.1:p.Ala114=
ENST00000377728.7:c.342G>C ENSP00000366957.3:p.Ala114=
ENST00000377732.5:c.453G>C ENSP00000366961.1:p.Ala151=
ENST00000377740.4:c.573G>C ENSP00000366969.3:p.Ala191=
ENST00000377748.5:c.573G>C ENSP00000366977.1:p.Ala191=
ENST00000400913.5:c.342G>C ENSP00000383704.1:p.Ala114=
ENST00000400915.7:c.510G>C ENSP00000383706.3:p.Ala170=
ENST00000489097.5:n.818G>C
ENST00000535355.5:c.549G>C ENSP00000441445.1:p.Ala183=
ENST00000537245.5:c.579G>C ENSP00000439625.1:p.Ala193=
NM_001042663.1:c.510G>C NP_001036128.1:p.Ala170=
NM_001042664.1:c.342G>C NP_001036129.1:p.Ala114=
NM_001042665.1:c.342G>C NP_001036130.1:p.Ala114=
NM_001265592.1:c.579G>C NP_001252521.1:p.Ala193=
NM_001265593.1:c.549G>C NP_001252522.1:p.Ala183=
NM_001265594.1:c.342G>C NP_001252523.1:p.Ala114=
NM_020631.4:c.342G>C NP_065682.2:p.Ala114=
NM_198681.3:c.573G>C NP_941374.2:p.Ala191=
NM_001042663.2:c.510G>C NP_001036128.1:p.Ala170=
NM_001265594.2:c.342G>C NP_001252523.1:p.Ala114=
NM_020631.5:c.342G>C NP_065682.2:p.Ala114=
NM_001042663.3:c.453G>C NP_001036128.2:p.Ala151=
NM_001265592.2:c.453G>C NP_001252521.2:p.Ala151=
NM_020631.6:c.342G>C MANE Select NP_065682.2:p.Ala114=
NM_198681.4:c.342G>C NP_941374.3:p.Ala114=